Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD

by Picker-Minh, Sylvie, Mignot, Cyril, Doummar, Diane, Hashem, Mais, Faqeih, Eissa, Josset, Patrice, Dubern, Béatrice, Alkuraya, Fowzan S., Kraemer, Nadine, Kaindl, Angela M.
Published 2016

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

by Mignot, Cyril, Apartis, Emmanuelle, Durr, Alexandra, Marques Lourenço, Charles, Charles, Perrine, Devos, David, Moreau, Caroline, de Lonlay, Pascale, Drouot, Nathalie, Burglen, Lydie, Kempf, Nadine, Nourisson, Elsa, Chantot-Bastaraud, Sandra, Lebre, Anne-Sophie, Rio, Marlène, Chaix, Yves, Bieth, Eric, Roze, Emmanuel, Bonnet, Isabelle, Canaple, Sandrine, Rastel, Coralie, Brice, Alexis, Rötig, Agnès, Desguerre, Isabelle, Tranchant, Christine, Koenig, Michel, Anheim, Mathieu
Published 2013

The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients

by Stirnemann, Jérôme, Vigan, Marie, Hamroun, Dalil, Heraoui, Djazia, Rossi-Semerano, Linda, Berger, Marc G, Rose, Christian, Camou, Fabrice, de Roux-Serratrice, Christine, Grosbois, Bernard, Kaminsky, Pierre, Robert, Alain, Caillaud, Catherine, Froissart, Roselyne, Levade, Thierry, Masseau, Agathe, Mignot, Cyril, Sedel, Frédéric, Dobbelaere, Dries, Vanier, Marie T, Valayanopoulos, Vassili, Fain, Olivier, Fantin, Bruno, de Villemeur, Thierry Billette, Mentré, France, Belmatoug, Nadia
Published 2012

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders

by Nava, Caroline, Rupp, Johanna, Boissel, Jean-Paul, Mignot, Cyril, Rastetter, Agnès, Amiet, Claire, Jacquette, Aurélia, Dupuits, Céline, Bouteiller, Delphine, Keren, Boris, Ruberg, Merle, Faudet, Anne, Doummar, Diane, Philippe, Anne, Périsse, Didier, Laurent, Claudine, Lebrun, Nicolas, Guillemot, Vincent, Chelly, Jamel, Cohen, David, Héron, Delphine, Brice, Alexis, Closs, Ellen I., Depienne, Christel
Published 2015

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

by Fotiou, Elisavet, Martin-Almedina, Silvia, Simpson, Michael A., Lin, Shin, Gordon, Kristiana, Brice, Glen, Atton, Giles, Jeffery, Iona, Rees, David C., Mignot, Cyril, Vogt, Julie, Homfray, Tessa, Snyder, Michael P., Rockson, Stanley G., Jeffery, Steve, Mortimer, Peter S., Mansour, Sahar, Ostergaard, Pia
Published 2015

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

by Monin, Marie-Lorraine, Mignot, Cyril, De Lonlay, Pascale, Héron, Bénédicte, Masurel, Alice, Mathieu-Dramard, Michèle, Lenaerts, Catherine, Thauvin, Christel, Gérard, Marion, Roze, Emmanuel, Jacquette, Aurélia, Charles, Perrine, de Baracé, Claire, Drouin-Garraud, Valérie, Van Kien, Philippe Khau, Cormier-Daire, Valérie, Mayer, Michèle, Ogier, Hélène, Brice, Alexis, Seta, Nathalie, Héron, Delphine
Published 2014

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

by Milh, Mathieu, Boutry-Kryza, Nadia, Sutera-Sardo, Julie, Mignot, Cyril, Auvin, Stéphane, Lacoste, Caroline, Villeneuve, Nathalie, Roubertie, Agathe, Heron, Bénédicte, Carneiro, Maryline, Kaminska, Anna, Altuzarra, Cécilia, Blanchard, Gaëlle, Ville, Dorothée, Barthez, Marie Anne, Heron, Delphine, Gras, Domitille, Afenjar, Alexandra, Dorison, Nathalie, Doummar, Dianne, Billette de Villemeur, Thierry, An, Isabelle, Jacquette, Aurélia, Charles, Perrine, Perrier, Julie, Isidor, Bertrand, Vercueil, Laurent, Chabrol, Brigitte, Badens, Catherine, Lesca, Gaétan, Villard, Laurent
Published 2013

Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency

by Saunier, Chloé, Støve, Svein Isungset, Popp, Bernt, Gérard, Bénédicte, Blenski, Marina, AhMew, Nicholas, de Bie, Charlotte, Goldenberg, Paula, Isidor, Bertrand, Keren, Boris, Leheup, Bruno, Lampert, Laetitia, Mignot, Cyril, Tezcan, Kamer, Mancini, Grazia M.S., Nava, Caroline, Wasserstein, Melissa, Bruel, Ange‐Line, Thevenon, Julien, Masurel, Alice, Duffourd, Yannis, Kuentz, Paul, Huet, Frédéric, Rivière, Jean‐Baptiste, van Slegtenhorst, Marjon, Faivre, Laurence, Piton, Amélie, Reis, André, Arnesen, Thomas, Thauvin‐Robinet, Christel, Zweier, Christiane
Published 2016

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

by Rice, Gillian I, del Toro Duany, Yoandris, Jenkinson, Emma M, Forte, Gabriella MA, Anderson, Beverley H, Ariaudo, Giada, Bader-Meunier, Brigitte, Baildam, Eileen M, Battini, Roberta, Beresford, Michael W, Casarano, Manuela, Chouchane, Mondher, Cimaz, Rolando, Collins, Abigail E, Cordeiro, Nuno JV, Dale, Russell C, Davidson, Joyce E, De Waele, Liesbeth, Desguerre, Isabelle, Faivre, Laurence, Fazzi, Elisa, Isidor, Bertrand, Lagae, Lieven, Latchman, Andrew R, Lebon, Pierre, Li, Chumei, Livingston, John H, Lourenço, Charles M, Mancardi, Maria Margherita, Masurel-Paulet, Alice, McInnes, Iain B, Menezes, Manoj P, Mignot, Cyril, O’Sullivan, James, Orcesi, Simona, Picco, Paolo P, Riva, Enrica, Robinson, Robert A, Rodriguez, Diana, Salvatici, Elisabetta, Scott, Christiaan, Szybowska, Marta, Tolmie, John L, Vanderver, Adeline, Vanhulle, Catherine, Vieira, Jose Pedro, Webb, Kate, Whitney, Robyn N, Williams, Simon G, Wolfe, Lynne A, Zuberi, Sameer M, Hur, Sun, Crow, Yanick J
Published 2014